Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Facial paresis, hereditary congenital, 3

OMIM:614744
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolHOXB1
Reference transcriptNM_002144.3
DNA Changec.66C>G
A.A. Changep.Tyr22*
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceVogel M, Velleuer E, Schmidt-Jiménez LF, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortüm F. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
Am J Med Genet A. 2016 Jul;170(7):1813-9. doi: 10.1002/ajmg.a.37682. Epub 2016 May 4.